Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000291294 [[47123724, 47124929], [47126714, 47127494], [47128253, 47128375]] [[47124536, 47124929], [47126714, 47127482]]
ENST00000598865 [[47124423, 47124929], [47126714, 47126856], [47128253, 47128329]] [[47124536, 47124929], [47126714, 47126846]]
ENST00000594275 [[47124423, 47124929], [47126714, 47126831], [47128253, 47128329]] [[47124536, 47124929], [47126714, 47126753]]
ENST00000597185 [[47124423, 47125078], [47128209, 47128329]] [[47124536, 47124884]]
ENST00000595460 [[47125978, 47128004]] None
ENST00000596260 [[47126386, 47126574], [47126714, 47127494], [47128253, 47128294]] [[47126451, 47126574], [47126714, 47127482]]
NM_000960 [[47123724, 47124929], [47126714, 47127494], [47128253, 47128354]] [[47124536, 47124929], [47126714, 47127482]]
Promoter
Chrom Start End Description
chr19 47128314 47128365 CAGE_peak_1_at_PTGIR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I046631 46631561 46631947 0.54 [{'connected_gene': 'GNG8', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.44}]
chr19 GH19I046522 46522370 46523634 0.7 [{'connected_gene': 'GNG8', 'score': 10.7}, {'connected_gene': 'PNMA8A', 'score': 6.37}, {'connected_gene': 'PNMA8B', 'score': 4.99}, {'connected_gene': 'CCDC8', 'score': 4.86}, {'connected_gene': 'PTGIR', 'score': 1.34}, {'connected_gene': 'GC19M046472', 'score': 0.77}, {'connected_gene': 'GC19M046508', 'score': 0.39}, {'connected_gene': 'PPP5D1', 'score': 0.18}]
chr19 GH19I046633 46633451 46635298 1.58 [{'connected_gene': 'GNG8', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 23.83}, {'connected_gene': 'ZC3H4', 'score': 14.28}, {'connected_gene': 'BICRA', 'score': 10.87}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'PTGIR', 'score': 0.44}]
chr19 GH19I046021 46021201 46022600 0.88 [{'connected_gene': 'PGLYRP1', 'score': 550.77}, {'connected_gene': 'LOC105372421', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 11.56}, {'connected_gene': 'CLASRP', 'score': 11.01}, {'connected_gene': 'ENSG00000268810', 'score': 9.74}, {'connected_gene': 'PTGIR', 'score': 4.31}, {'connected_gene': 'GC19P046021', 'score': 0.77}, {'connected_gene': 'GC19P046013', 'score': 0.44}]
chr19 GH19I046629 46629284 46630285 1.07 [{'connected_gene': 'PTGIR', 'score': 0.77}, {'connected_gene': 'GNG8', 'score': 0.44}]
chr19 GH19I046618 46618202 46626933 2.07 [{'connected_gene': 'PTGIR', 'score': 556.03}, {'connected_gene': 'ZC3H4', 'score': 35.44}, {'connected_gene': 'ENSG00000268810', 'score': 25.4}, {'connected_gene': 'BICRA', 'score': 15.07}, {'connected_gene': 'ENSG00000268746', 'score': 12.24}, {'connected_gene': 'IRF2BP1', 'score': 11.56}, {'connected_gene': 'INAFM1', 'score': 10.35}, {'connected_gene': 'SYMPK', 'score': 10.15}, {'connected_gene': 'CCDC61', 'score': 10.0}, {'connected_gene': 'FKRP', 'score': 6.48}, {'connected_gene': 'CALM3', 'score': 5.23}, {'connected_gene': 'PRKD2', 'score': 1.6}, {'connected_gene': 'GC19M046616', 'score': 0.44}]
chr19 GH19I046184 46184884 46185316 0.8 [{'connected_gene': 'PTGIR', 'score': 1.25}, {'connected_gene': 'LOC105372424', 'score': 0.77}, {'connected_gene': 'IGFL1P1', 'score': 0.39}, {'connected_gene': 'ENSG00000267922', 'score': 0.18}, {'connected_gene': 'IGFL2', 'score': 0.14}]
chr19 GH19I046026 46026001 46026400 0.31 [{'connected_gene': 'PTGIR', 'score': 4.88}, {'connected_gene': 'LOC105372421', 'score': 0.77}, {'connected_gene': 'GC19P046013', 'score': 0.39}, {'connected_gene': 'PIR35316', 'score': 0.29}]
chr19 GH19I046630 46630801 46631467 0.77 [{'connected_gene': 'PPP5C', 'score': 4.44}, {'connected_gene': 'GNG8', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.44}]
chr19 GH19I047105 47105710 47114883 2.68 [{'connected_gene': 'ZC3H4', 'score': 618.89}, {'connected_gene': 'ENSG00000268810', 'score': 44.26}, {'connected_gene': 'BICRA', 'score': 32.41}, {'connected_gene': 'C5AR2', 'score': 32.07}, {'connected_gene': 'PRKD2', 'score': 25.22}, {'connected_gene': 'CCDC9', 'score': 25.19}, {'connected_gene': 'NOP53-AS1', 'score': 22.55}, {'connected_gene': 'SNORD23', 'score': 20.88}, {'connected_gene': 'ENSG00000268746', 'score': 20.42}, {'connected_gene': 'DHX34', 'score': 19.13}, {'connected_gene': 'EHD2', 'score': 13.25}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'TMEM160', 'score': 11.39}, {'connected_gene': 'PPP5D1', 'score': 11.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.82}, {'connected_gene': 'C5AR1', 'score': 10.52}, {'connected_gene': 'INAFM1', 'score': 10.36}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'BBC3', 'score': 6.52}, {'connected_gene': 'NAPA', 'score': 6.5}, {'connected_gene': 'SAE1', 'score': 5.53}, {'connected_gene': 'STRN4', 'score': 1.59}, {'connected_gene': 'PTGIR', 'score': 1.47}, {'connected_gene': 'GC19P047078', 'score': 0.29}]
chr19 GH19I046727 46727916 46734800 1.43 [{'connected_gene': 'ZC3H4', 'score': 33.31}, {'connected_gene': 'ENSG00000268810', 'score': 30.62}, {'connected_gene': 'STRN4', 'score': 25.89}, {'connected_gene': 'BICRA', 'score': 22.87}, {'connected_gene': 'PRKD2', 'score': 20.17}, {'connected_gene': 'IRF2BP1', 'score': 12.18}, {'connected_gene': 'MIR320E', 'score': 12.17}, {'connected_gene': 'GNG8', 'score': 11.26}, {'connected_gene': 'CCDC61', 'score': 9.99}, {'connected_gene': 'FKRP', 'score': 9.22}, {'connected_gene': 'PTGIR', 'score': 2.03}, {'connected_gene': 'ENSG00000222614', 'score': 0.77}, {'connected_gene': 'PIR58014', 'score': 0.77}, {'connected_gene': 'ENSG00000269487', 'score': 0.77}, {'connected_gene': 'GC19M046729', 'score': 0.77}]
chr19 GH19I046610 46610541 46611181 0.57 [{'connected_gene': 'ENSG00000269292', 'score': 550.77}, {'connected_gene': 'CALM3', 'score': 6.59}, {'connected_gene': 'GC19M046616', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.39}]
chr19 GH19I046611 46611219 46613007 1.13 [{'connected_gene': 'ENSG00000269292', 'score': 550.77}, {'connected_gene': 'CALM3', 'score': 5.63}, {'connected_gene': 'GC19M046616', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.39}]
chr19 GH19I046614 46614001 46614601 0.93 [{'connected_gene': 'GC19M046616', 'score': 550.77}, {'connected_gene': 'ENSG00000269292', 'score': 0.77}, {'connected_gene': 'PTGIR', 'score': 0.39}]
chr19 GH19I046616 46616458 46617910 1.21 [{'connected_gene': 'GC19M046616', 'score': 550.77}, {'connected_gene': 'PTGIR', 'score': 0.44}]

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